Analysis Tools
growth/size/body
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• adult mice at P60 are also smaller
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• mice exhibit growth retardation and are smaller at P1 to P21, indicating a skeletal growth defect
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limbs/digits/tail
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• mice at P7, P14, and P21 exhibit the formation of an additional rudimentary phalanx called a delta phalanx at the extremities of hind limbs
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• width of femurs is decreased in newborns, at P7, P14, and P21
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• width of tibia is decreased in newborns, at P7, P14, and P21
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skeleton
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• mice at P7, P14, and P21 exhibit the formation of an additional rudimentary phalanx called a delta phalanx at the extremities of hind limbs
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• width of femurs is decreased in newborns, at P7, P14, and P21
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• width of tibia is decreased in newborns, at P7, P14, and P21
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• reduction in length and width of the ilium
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short ilium
(
J:282272
)
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• femoral head cartilage at P4 shows a less dense extracellular matrix
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• at P7, the relative proliferative zone area is increased and correspondingly, the relative hypertrophic zone area is decreased, indicating an imbalance between the two growth plate zones
• proliferation and apoptosis imbalance in growth plates
• however, no disruption of the growth plate organization is seen at P21
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• the height and area of the proliferative zone in P7 growth plates is reduced
• at P7, the proliferative zone shows a higher number of columns per area but the columns are shorter and with fewer cells compared to wild-type growth plates
• at P14, only the height of the columns in the proliferative zone is decreased compared to wild-type mice
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• the average height of the most terminal hypertrophic chondrocytes in the growth plate is decreased compared to wild-type at all ages
• the height and area of the hypertrophic zone in P7 and P14 cartilage is reduced
• at P7, the hypertrophic zone shows a higher number of columns per area but the columns are shorter and with fewer cells compared to wild-type growth plates
• at P14, only the height of the columns in the hypertrophic zone is decreased compared to wild-type mice
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• chondrocytes show endoplasmic reticulum (ER) enlargement with retained proteinaceous material in P4 mice
• however, ER stress is not detected
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• mice exhibit a chondrodysplastic phenotype
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• defects in endochondral ossification
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• delay in the formation of secondary ossification center is seen at all ages
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• primary chondrocyte cultures from rib cartilage show reduced proteoglycan synthesis and proteoglycan secretion
• GAG content in femoral head cartilage of P4 mice treated with proteinase K is reduced, indicating reduced proteoglycan content in cartilage
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• the percentage of apoptotic chondrocytes in the proliferative zone of P7 is increased, whereas no difference is seen in the hypertrophic zone at P7 or P14
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• the percentage of proliferating chondrocytes is increased at P7 and P14, with no differences at P21
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cellular
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• the percentage of apoptotic chondrocytes in the proliferative zone of P7 is increased, whereas no difference is seen in the hypertrophic zone at P7 or P14
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• the percentage of proliferating chondrocytes is increased at P7 and P14, with no differences at P21
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Desbuquois dysplasia | DOID:0060462 |
OMIM:251450 OMIM:615777 |
J:282272 | |
